Cluster #1

HPO Cluster Description
HP:0003540 1 Impaired platelet aggregation
HP:0003655 1 Reduced level of N-acetylglucosaminyltransferase II
HP:0500173 1 Reflex asystolic syncope
Cluster Cell function Description Phenotype_coverage Genes
1 hsa00513 Various types of N-glycan biosynthesis 100 MGAT2
1 hsa00510 N-Glycan biosynthesis 100 MGAT2
1 R-HSA-9694635 Translation of Structural Proteins 100 MGAT2
1 R-HSA-9694548 Maturation of spike protein 100 MGAT2
1 R-HSA-3781865 Diseases of glycosylation 100 MGAT2
1 R-HSA-5668914 Diseases of metabolism 100 MGAT2
1 R-HSA-446203 Asparagine N-linked glycosylation 100 MGAT2
1 R-HSA-3781860 Diseases associated with N-glycosylation of proteins 100 MGAT2
1 R-HSA-975578 Reactions specific to the complex N-glycan synthesis pathway 100 MGAT2
1 R-HSA-9772573 Late SARS-CoV-2 Infection Events 100 MGAT2
1 R-HSA-975576 N-glycan antennae elongation in the medial/trans-Golgi 100 MGAT2
1 R-HSA-9679506 SARS-CoV Infections 100 MGAT2
1 R-HSA-9694516 SARS-CoV-2 Infection 100 MGAT2
1 R-HSA-948021 Transport to the Golgi and subsequent modification 100 MGAT2
1 GO:0018279 protein N-linked glycosylation via asparagine 100 MGAT2
1 GO:0019082 viral protein processing 100 MGAT2
1 GO:0009312 oligosaccharide biosynthetic process 100 MGAT2
1 GO:0008375 acetylglucosaminyltransferase activity 100 MGAT2
1 GO:0030145 manganese ion binding 100 MGAT2
1 GO:0140103 catalytic activity, acting on a glycoprotein 100 MGAT2
1 GO:0005795 Golgi stack 100 MGAT2

Cluster #4

HPO Cluster Description
HP:0007456 4 Progressive reticulate hyperpigmentation
HP:0012855 4 Scrotal hyperpigmentation
HP:0030442 4 Anal margin squamous cell carcinoma
HP:0031293 4 Digital pitting scar
HP:0031525 4 Keratoacanthoma
Cluster Cell function Description Phenotype_coverage Genes
4 hsa00514 Other types of O-glycan biosynthesis 100 POGLUT1, POFUT1
4 hsa04330 Notch signaling pathway 100 PSENEN
4 R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus 100 PSENEN
4 R-HSA-2644603 Signaling by NOTCH1 in Cancer 100 PSENEN
4 R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus 100 PSENEN
4 R-HSA-2682334 EPH-Ephrin signaling 100 PSENEN
4 R-HSA-3928665 EPH-ephrin mediated repulsion of cells 100 PSENEN
4 R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE 100 PSENEN
4 R-HSA-193704 p75 NTR receptor-mediated signalling 100 PSENEN
4 R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus 100 PSENEN
4 R-HSA-1251985 Nuclear signaling by ERBB4 100 PSENEN
4 R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer 100 PSENEN
4 R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer 100 PSENEN
4 R-HSA-446728 Cell junction organization 100 KRT5
4 R-HSA-205043 NRIF signals cell death from the nucleus 100 PSENEN
4 R-HSA-9013694 Signaling by NOTCH4 100 PSENEN
4 R-HSA-193692 Regulated proteolysis of p75NTR 100 PSENEN
4 R-HSA-446107 Type I hemidesmosome assembly 100 KRT5
4 R-HSA-1980145 Signaling by NOTCH2 100 PSENEN
4 R-HSA-1912422 Pre-NOTCH Expression and Processing 100 POGLUT1, POFUT1
4 R-HSA-157118 Signaling by NOTCH 100 POGLUT1, PSENEN, POFUT1
4 R-HSA-1980143 Signaling by NOTCH1 100 PSENEN
4 R-HSA-9012852 Signaling by NOTCH3 100 PSENEN
4 R-HSA-977225 Amyloid fiber formation 100 PSENEN
4 R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants 100 PSENEN
4 R-HSA-1236394 Signaling by ERBB4 100 PSENEN
4 R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus 100 PSENEN
4 R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants 100 PSENEN
4 GO:0010470 regulation of gastrulation 100 POGLUT1
4 GO:0031293 membrane protein intracellular domain proteolysis 100 PSENEN
4 GO:0034205 amyloid-beta formation 100 PSENEN
4 GO:0006509 membrane protein ectodomain proteolysis 100 PSENEN
4 GO:0048339 paraxial mesoderm development 100 POGLUT1
4 GO:0010950 positive regulation of endopeptidase activity 100 PSENEN
4 GO:0031424 keratinization 100 KRT5
4 GO:0036065 fucosylation 100 POFUT1
4 GO:0016266 O-glycan processing 100 POFUT1
4 GO:0045747 positive regulation of Notch signaling pathway 100 POGLUT1
4 GO:0001756 somitogenesis 100 POGLUT1, POFUT1
4 GO:0018242 protein O-linked glycosylation via serine 100 POGLUT1
4 GO:0045109 intermediate filament organization 100 KRT5
4 GO:0006004 fucose metabolic process 100 POFUT1
4 GO:0030280 structural constituent of skin epidermis 100 KRT5
4 GO:0061133 endopeptidase activator activity 100 PSENEN
4 GO:0005200 structural constituent of cytoskeleton 100 KRT5
4 GO:0035252 UDP-xylosyltransferase activity 100 POGLUT1
4 GO:0008417 fucosyltransferase activity 100 POFUT1
4 GO:0097110 scaffold protein binding 100 KRT5
4 GO:0035251 UDP-glucosyltransferase activity 100 POGLUT1

Cluster #7

HPO Cluster Description
HP:0000517 7 Abnormal lens morphology
HP:0006152 7 Proximal symphalangism of hands
HP:0009608 7 Complete duplication of proximal phalanx of the thumb
HP:0009966 7 Complete duplication of the middle phalanx of the 3rd finger
HP:0009970 7 Partial duplication of the proximal phalanx of the 3rd finger
HP:0100266 7 Synostosis of carpals/tarsals
HP:0100345 7 Tibial deviation of the 2nd toe
HP:0100347 7 Tibial deviation of the 5th toe
Cluster Cell function Description Phenotype_coverage Genes
7 hsa00532 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate 100 CHSY1
7 R-HSA-3781865 Diseases of glycosylation 100 CHSY1
7 R-HSA-2022870 Chondroitin sulfate biosynthesis 100 CHSY1
7 R-HSA-5668914 Diseases of metabolism 100 CHSY1
7 R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism 100 CHSY1
7 R-HSA-71387 Metabolism of carbohydrates 100 CHSY1
7 R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism 100 CHSY1
7 R-HSA-1630316 Glycosaminoglycan metabolism 100 CHSY1
7 GO:0051923 sulfation 100 CHSY1
7 GO:0045880 positive regulation of smoothened signaling pathway 100 CHSY1
7 GO:0009954 proximal/distal pattern formation 100 CHSY1
7 GO:0060349 bone morphogenesis 100 CHSY1
7 GO:0031667 response to nutrient levels 100 CHSY1
7 GO:0002063 chondrocyte development 100 CHSY1
7 GO:0030279 negative regulation of ossification 100 CHSY1
7 GO:0030206 chondroitin sulfate biosynthetic process 100 CHSY1
7 GO:0008376 acetylgalactosaminyltransferase activity 100 CHSY1
7 GO:0015020 glucuronosyltransferase activity 100 CHSY1
7 GO:0032580 Golgi cisterna membrane 100 CHSY1

Cluster #16

HPO Cluster Description
HP:0000793 16 Membranoproliferative glomerulonephritis
HP:0004430 16 Severe combined immunodeficiency
HP:0008587 16 Mild neurosensory hearing impairment
HP:0031292 16 Cutaneous abscess
Cluster Cell function Description Phenotype_coverage Genes
16 GO:0009226 nucleotide-sugar biosynthetic process 100 PGM3
16 GO:1901071 glucosamine-containing compound metabolic process 100 PGM3
16 GO:0046349 amino sugar biosynthetic process 100 PGM3
16 GO:0006047 UDP-N-acetylglucosamine metabolic process 100 PGM3
16 hsa01250 Biosynthesis of nucleotide sugars 75 PGM3
16 hsa00520 Amino sugar and nucleotide sugar metabolism 75 PGM3
16 R-HSA-446219 Synthesis of substrates in N-glycan biosythesis 75 PGM3
16 R-HSA-446203 Asparagine N-linked glycosylation 75 PGM3
16 R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 75 PGM3
16 GO:0006487 protein N-linked glycosylation 75 PGM3
16 GO:0006493 protein O-linked glycosylation 75 PGM3
16 GO:0000287 magnesium ion binding 75 PGM3
16 GO:0016868 intramolecular transferase activity, phosphotransferases 75 PGM3

Cluster #18

HPO Cluster Description
HP:0001407 18 Hepatic cysts
HP:0006557 18 Polycystic liver disease
HP:0012592 18 Albuminuria
Cluster Cell function Description Phenotype_coverage Genes
18 hsa04141 Protein processing in endoplasmic reticulum 100 PRKCSH, GANAB, DNAJB11, SEC63
18 hsa00510 N-Glycan biosynthesis 100 ALG9, GANAB, ALG5
18 R-HSA-5620916 VxPx cargo-targeting to cilium 100 PKD2, PKD1
18 R-HSA-446203 Asparagine N-linked glycosylation 100 PRKCSH, ALG9, GANAB, ALG5
18 R-HSA-5620920 Cargo trafficking to the periciliary membrane 100 PKD2, PKD1
18 R-HSA-5617833 Cilium Assembly 100 IFT140, PKD2, PKD1
18 R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 100 ALG9, ALG5
18 R-HSA-1852241 Organelle biogenesis and maintenance 100 IFT140, PKD2, PKD1
18 GO:0072176 nephric duct development 100 PKD1, PKD2
18 GO:0021510 spinal cord development 100 PKD1, PKD2
18 GO:0007204 positive regulation of cytosolic calcium ion concentration 100 PKD1, PKD2
18 GO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity 100 PKD2
18 GO:0048754 branching morphogenesis of an epithelial tube 100 LRP5, PKD1, PKD2
18 GO:0072017 distal tubule development 100 PKD1, PKD2
18 GO:0001889 liver development 100 PKD1, PRKCSH, SEC63, PKD2
18 GO:0072173 metanephric tubule morphogenesis 100 PKD1
18 GO:0072014 proximal tubule development 100 PKD1
18 GO:0035845 photoreceptor cell outer segment organization 100 IFT140
18 GO:0072078 nephron tubule morphogenesis 100 PKD1, PKD2
18 GO:0018279 protein N-linked glycosylation via asparagine 100 ALG5
18 GO:0021915 neural tube development 100 TSC2, TSC1, PKD1, IFT140, PKD2
18 GO:2000045 regulation of G1/S transition of mitotic cell cycle 100 PKD1, PKD2
18 GO:0050982 detection of mechanical stimulus 100 PKD1, PKD2
18 GO:0072164 mesonephric tubule development 100 PKD1, PKD2
18 GO:0007259 receptor signaling pathway via JAK-STAT 100 PKD1, IFNG, PKD2
18 GO:0001502 cartilage condensation 100 PKD1
18 GO:0006488 dolichol-linked oligosaccharide biosynthetic process 100 ALG9
18 GO:1990403 embryonic brain development 100 IFT140
18 GO:0009415 response to water 100 PKD2
18 GO:0001892 embryonic placenta development 100 PKD1, PKD2
18 GO:0072070 loop of Henle development 100 PKD1, PKD2
18 GO:0072273 metanephric nephron morphogenesis 100 PKD1, PKD2
18 GO:0019348 dolichol metabolic process 100 ALG9
18 GO:0060972 left/right pattern formation 100 BICC1, IFT140, ALG5, PKD2
18 GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity 100 PKD1, PKD2
18 GO:0072234 metanephric nephron tubule development 100 PKD1, PKD2
18 GO:0048562 embryonic organ morphogenesis 100 IFT140, PKD2
18 GO:0071498 cellular response to fluid shear stress 100 PKD2
18 GO:0072205 metanephric collecting duct development 100 PKD1
18 GO:0035721 intraciliary retrograde transport 100 IFT140
18 GO:0072075 metanephric mesenchyme development 100 PKD2
18 GO:0006491 N-glycan processing 100 GANAB, PRKCSH
18 GO:0016055 Wnt signaling pathway 100 TSC2, PKD1, PKD2, LRP5, BICC1
18 GO:0036303 lymph vessel morphogenesis 100 PKD1
18 GO:0007368 determination of left/right symmetry 100 BICC1, IFT140, ALG5, PKD2
18 GO:0051290 protein heterotetramerization 100 PKD1, PKD2
18 GO:0060674 placenta blood vessel development 100 PKD1, PKD2
18 GO:0042994 cytoplasmic sequestering of transcription factor 100 PKD1, PKD2
18 GO:0035251 UDP-glucosyltransferase activity 100 ALG5
18 GO:0015926 glucosidase activity 100 GANAB
18 GO:0051787 misfolded protein binding 100 DNAJB11
18 GO:0005248 voltage-gated sodium channel activity 100 PKD2
18 GO:0030246 carbohydrate binding 100 GANAB, PKD1
18 GO:0051371 muscle alpha-actinin binding 100 PKD2
18 GO:0000030 mannosyltransferase activity 100 ALG9
18 GO:0015271 outward rectifier potassium channel activity 100 PKD2
18 GO:0044325 transmembrane transporter binding 100 PRKCSH, PKD1, PKD2
18 GO:0015278 calcium-release channel activity 100 PKD2
18 GO:0042813 Wnt receptor activity 100 PKD1, LRP5
18 GO:0032391 photoreceptor connecting cilium 100 IFT140
18 GO:0036064 ciliary basal body 100 PKD2, IFT140
18 GO:0005788 endoplasmic reticulum lumen 100 GANAB, DNAJB11, PRKCSH
18 GO:0034663 endoplasmic reticulum chaperone complex 100 DNAJB11
18 GO:0101031 protein folding chaperone complex 100 DNAJB11, TSC1
18 GO:0034703 cation channel complex 100 PKD2, PKD1
18 GO:0060170 ciliary membrane 100 PKD2, PKD1
18 GO:0097542 ciliary tip 100 IFT140
18 GO:0097730 non-motile cilium 100 PKD2, IFT140
18 GO:0098553 lumenal side of endoplasmic reticulum membrane 100 PKD2
18 GO:0031514 motile cilium 100 PKD2, PKD1
18 GO:0098554 cytoplasmic side of endoplasmic reticulum membrane 100 PKD2
18 GO:0016323 basolateral plasma membrane 100 PKD2, PKD1
18 GO:0099738 cell cortex region 100 PKD2
18 GO:0030990 intraciliary transport particle 100 IFT140

Cluster #41

HPO Cluster Description
HP:0003325 41 Limb-girdle muscle weakness
HP:0003403 41 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0009028 41 Generalized weakness of limb muscles
HP:0030191 41 Abnormal peripheral nervous system synaptic transmission
HP:0030202 41 Favorable response of weakness to acetylcholine esterase inhibitors
HP:0030205 41 Increased jitter at single fiber EMG
Cluster Cell function Description Phenotype_coverage Genes
41 hsa01250 Biosynthesis of nucleotide sugars 100.00000 GMPPB, GFPT1
41 hsa00520 Amino sugar and nucleotide sugar metabolism 100.00000 GMPPB, GFPT1
41 R-HSA-3781865 Diseases of glycosylation 100.00000 DPAGT1, GFPT1, AGRN, ALG2, ALG14, POMT1
41 R-HSA-446219 Synthesis of substrates in N-glycan biosythesis 100.00000 GMPPB, GFPT1
41 R-HSA-5668914 Diseases of metabolism 100.00000 DPAGT1, GFPT1, AGRN, ALG2, ALG14, POMT1
41 R-HSA-446203 Asparagine N-linked glycosylation 100.00000 DPAGT1, GMPPB, GFPT1, ALG2, ALG14
41 R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 100.00000 DPAGT1, GMPPB, GFPT1, ALG2, ALG14
41 GO:0009226 nucleotide-sugar biosynthetic process 100.00000 GFPT1, GMPPB
41 hsa00513 Various types of N-glycan biosynthesis 83.33333 ALG2, ALG14
41 hsa00510 N-Glycan biosynthesis 83.33333 ALG2, DPAGT1, ALG14
41 R-HSA-3781860 Diseases associated with N-glycosylation of proteins 83.33333 DPAGT1, ALG2, ALG14
41 GO:0006488 dolichol-linked oligosaccharide biosynthetic process 83.33333 ALG2, DPAGT1, ALG14
41 GO:0006047 UDP-N-acetylglucosamine metabolic process 83.33333 GFPT1, DPAGT1
41 GO:0019348 dolichol metabolic process 83.33333 ALG2, DPAGT1, ALG14
41 GO:0006112 energy reserve metabolic process 83.33333 GFPT1, PHKB
41 GO:0016757 glycosyltransferase activity 83.33333 DPAGT1, ALG14, ALG2

Cluster #44

HPO Cluster Description
HP:0000918 44 Scapular exostoses
HP:0002318 44 Cervical myelopathy
HP:0003406 44 Peripheral nerve compression
HP:0003959 44 Deformed forearm bones
HP:0003977 44 Deformed radius
HP:0005922 44 Abnormal hand morphology
HP:0006385 44 Short lower limbs
HP:0008443 44 Neuropathic spinal arthropathy
HP:0020110 44 Bone fracture
HP:0030883 44 Femoroacetabular impingement
HP:0031625 44 Pseudoaneurysm
HP:0032510 44 Tendon pain
Cluster Cell function Description Phenotype_coverage Genes
44 R-HSA-3656237 Defective EXT2 causes exostoses 2 100.00000 EXT2, AGRN, EXT1
44 R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism 100.00000 EXT2, AGRN, EXT1
44 R-HSA-3656253 Defective EXT1 causes exostoses 1, TRPS2 and CHDS 100.00000 EXT2, AGRN, EXT1
44 R-HSA-71387 Metabolism of carbohydrates 100.00000 EXT2, EXT1, AGRN, SLC25A1, SLC26A2, GALT
44 R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism 100.00000 SLC26A2, EXT2, AGRN, EXT1
44 R-HSA-1630316 Glycosaminoglycan metabolism 100.00000 SLC26A2, EXT2, AGRN, EXT1
44 R-HSA-5668914 Diseases of metabolism 100.00000 EXT2, EXT1, GNE, MOGS, AGRN, GALT, SLC26A2
44 R-HSA-3781865 Diseases of glycosylation 100.00000 EXT2, EXT1, GNE, MOGS, AGRN, GALT, SLC26A2
44 R-HSA-2022928 HS-GAG biosynthesis 100.00000 EXT2, AGRN, EXT1
44 GO:0001958 endochondral ossification 100.00000 MMP13, COL13A1, MMP14, EXT1
44 GO:0043931 ossification involved in bone maturation 100.00000 EBP, EXT1
44 hsa00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin 91.66667 EXT1, EXT2
44 GO:0072498 embryonic skeletal joint development 91.66667 EXT1
44 GO:0002063 chondrocyte development 91.66667 EXT1
44 GO:0042044 fluid transport 91.66667 EXT2, EXT1
44 GO:0000271 polysaccharide biosynthetic process 91.66667 EXT2, EXT1
44 GO:0007498 mesoderm development 91.66667 EXT2, EXT1
44 GO:0050891 multicellular organismal-level water homeostasis 91.66667 EXT2, EXT1
44 GO:0061484 hematopoietic stem cell homeostasis 91.66667 EXT1
44 GO:0032836 glomerular basement membrane development 91.66667 EXT1
44 GO:0071711 basement membrane organization 91.66667 EXT1
44 GO:0035988 chondrocyte proliferation 91.66667 SLC26A2, MMP14, EXT1
44 GO:0055078 sodium ion homeostasis 91.66667 EXT2, EXT1
44 GO:0015012 heparan sulfate proteoglycan biosynthetic process 91.66667 EXT2, EXT1
44 GO:0061744 motor behavior 91.66667 EXT1
44 GO:0050901 leukocyte tethering or rolling 91.66667 EXT1
44 GO:0003416 endochondral bone growth 91.66667 MMP13, EXT1
44 GO:0048733 sebaceous gland development 91.66667 EXT1
44 GO:0002524 hypersensitivity 91.66667 EXT1
44 GO:0031069 hair follicle morphogenesis 91.66667 EXT1
44 GO:0008217 regulation of blood pressure 91.66667 GNA11, EXT2, EXT1
44 GO:0060218 hematopoietic stem cell differentiation 91.66667 EXT1
44 GO:0021554 optic nerve development 91.66667 EXT1
44 GO:0017145 stem cell division 91.66667 EXT1
44 GO:0070593 dendrite self-avoidance 91.66667 EXT1
44 GO:0051923 sulfation 91.66667 EXT2, EXT1
44 GO:0060441 epithelial tube branching involved in lung morphogenesis 91.66667 EXT1
44 GO:0021772 olfactory bulb development 91.66667 EXT1
44 GO:0009642 response to light intensity 91.66667 EXT1
44 GO:0072112 podocyte differentiation 91.66667 EXT1
44 GO:0036336 dendritic cell migration 91.66667 EXT1
44 GO:0140962 multicellular organismal-level chemical homeostasis 91.66667 EXT2, EXT1
44 GO:0003128 heart field specification 91.66667 EXT1
44 GO:0071625 vocalization behavior 91.66667 EXT1
44 GO:0030210 heparin biosynthetic process 91.66667 EXT2, EXT1
44 GO:0060047 heart contraction 91.66667 EXT2, EXT1
44 GO:0030204 chondroitin sulfate metabolic process 91.66667 EXT1
44 GO:0060351 cartilage development involved in endochondral bone morphogenesis 91.66667 MMP13, EXT1
44 GO:0042311 vasodilation 91.66667 EXT2, EXT1
44 GO:0046982 protein heterodimerization activity 91.66667 EXT2, IKBKG, EXT1
44 GO:0008375 acetylglucosaminyltransferase activity 91.66667 EXT2, EXT1
44 GO:0015020 glucuronosyltransferase activity 91.66667 EXT2, EXT1
44 GO:0007492 endoderm development 83.33333 MMP2, MMP14, EXT1, FN1
44 GO:0035176 social behavior 83.33333 EXT1
44 GO:0007409 axonogenesis 83.33333 SPART, EXT1, FN1
44 GO:0060560 developmental growth involved in morphogenesis 83.33333 SPART, EXT1, FN1
44 GO:0001974 blood vessel remodeling 83.33333 EXT1
44 GO:1904888 cranial skeletal system development 83.33333 GNA11, MMP14, EXT1
44 GO:0042596 fear response 83.33333 EXT1
44 GO:0048588 developmental cell growth 83.33333 SPART, EXT1, FN1
44 GO:0030509 BMP signaling pathway 75.00000 SPART, EXT1
44 GO:0045453 bone resorption 75.00000 EXT1
44 GO:0001707 mesoderm formation 75.00000 EXT2
44 GO:0014033 neural crest cell differentiation 75.00000 EXT1, FN1
44 GO:0009615 response to virus 75.00000 EXT1, IKBKG
44 GO:0008543 fibroblast growth factor receptor signaling pathway 75.00000 FGF23, EXT1
44 GO:0042060 wound healing 75.00000 EXT1, FN1
44 GO:0002067 glandular epithelial cell differentiation 75.00000 EXT1
44 GO:0030199 collagen fibril organization 75.00000 EXT1

Cluster #49

HPO Cluster Description
HP:0000973 49 Cutis laxa
HP:0004523 49 Long eyebrows
HP:0010814 49 Abnormal position of hair whorl
HP:0012301 49 Type II transferrin isoform profile
Cluster Cell function Description Phenotype_coverage Genes
49 hsa00510 N-Glycan biosynthesis 100 ALG8, B4GALT1, MAN1B1
49 R-HSA-3781865 Diseases of glycosylation 100 B4GALT1, ALG8, MAN1B1, B4GALT7
49 R-HSA-5668914 Diseases of metabolism 100 B4GALT1, ALG8, MAN1B1, B4GALT7
49 R-HSA-3781860 Diseases associated with N-glycosylation of proteins 100 B4GALT1, ALG8, MAN1B1
49 R-HSA-901032 ER Quality Control Compartment (ERQC) 100 MAN1B1
49 GO:0015924 mannosyl-oligosaccharide mannosidase activity 100 MAN1B1
49 GO:0044322 endoplasmic reticulum quality control compartment 100 MAN1B1
49 hsa00513 Various types of N-glycan biosynthesis 75 B4GALT1, MAN1B1
49 R-HSA-9694635 Translation of Structural Proteins 75 MAN1B1
49 R-HSA-901042 Calnexin/calreticulin cycle 75 MAN1B1
49 R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle 75 MAN1B1
49 R-HSA-446203 Asparagine N-linked glycosylation 75 COG1, COG4, B4GALT1, MAN1B1, COG7
49 R-HSA-9694548 Maturation of spike protein 75 MAN1B1
49 GO:0019082 viral protein processing 75 MAN1B1
49 GO:0009311 oligosaccharide metabolic process 75 MAN1B1, B4GALT1
49 GO:0006517 protein deglycosylation 75 MAN1B1
49 GO:0006516 glycoprotein catabolic process 75 MAN1B1
49 GO:1904587 response to glycoprotein 75 MAN1B1

Cluster #59

HPO Cluster Description
HP:0002283 59 Global brain atrophy
HP:0002401 59 Stroke-like episode
HP:0010845 59 EEG with generalized slow activity
HP:0012050 59 Anasarca
HP:0012512 59 Diffuse optic disc pallor
HP:0025534 59 Ocular melanocytosis
Cluster Cell function Description Phenotype_coverage Genes
59 R-HSA-5668914 Diseases of metabolism 100.00000 DPAGT1, RFT1, ALG13, DPM3, DOLK, CYP27A1, PMM2
59 R-HSA-3781860 Diseases associated with N-glycosylation of proteins 100.00000 DPAGT1, RFT1, ALG13
59 hsa00510 N-Glycan biosynthesis 83.33333 DPAGT1, DOLK, DPM3
59 R-HSA-3781865 Diseases of glycosylation 83.33333 DPAGT1, RFT1, DPM3, DOLK, PMM2
59 R-HSA-446203 Asparagine N-linked glycosylation 83.33333 DPAGT1, RFT1, DPM3, DOLK, PMM2
59 R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 83.33333 DPAGT1, RFT1, DPM3, DOLK, PMM2
59 GO:0006488 dolichol-linked oligosaccharide biosynthetic process 83.33333 RFT1, DPAGT1, DOLK
59 GO:0019348 dolichol metabolic process 83.33333 DPM3, RFT1, DPAGT1, DOLK

Cluster #96

HPO Cluster Description
HP:0000308 96 Microretrognathia
HP:0002761 96 Generalized joint hypermobility
HP:0002947 96 Cervical kyphosis
HP:0003199 96 Decreased muscle mass
HP:0003414 96 Atlantoaxial dislocation
HP:0005272 96 Prominent nasolabial fold
HP:0031869 96 Recurrent joint dislocation
Cluster Cell function Description Phenotype_coverage Genes
96 hsa00532 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate 100.00000 CHST14, B3GALT6, DSE
96 R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism 100.00000 CHST14, DSE, B3GALT6
96 R-HSA-2022923 Dermatan sulfate biosynthesis 100.00000 CHST14, DSE
96 GO:0050655 dermatan sulfate proteoglycan metabolic process 100.00000 CHST14, DSE
96 R-HSA-71387 Metabolism of carbohydrates 85.71429 GYG1, ALDOA, B3GALT6, DSE, SLC25A1, SLC26A2, CHST14
96 R-HSA-1630316 Glycosaminoglycan metabolism 71.42857 CHST14, DSE, B3GALT6, SLC26A2
96 GO:0044272 sulfur compound biosynthetic process 71.42857 CHST14, SLC25A1, B3GALT6, DSE
96 GO:0046364 monosaccharide biosynthetic process 71.42857 CHST14, SLC25A1, DSE
96 GO:0030203 glycosaminoglycan metabolic process 71.42857 CHST14, B3GALT6, FUCA1, DSE
96 GO:0030166 proteoglycan biosynthetic process 71.42857 CHST14, B3GALT6, DSE
96 GO:0016857 racemase and epimerase activity, acting on carbohydrates and derivatives 71.42857 DSE
96 GO:0042301 phosphate ion binding 71.42857 CHST14

Cluster #105

HPO Cluster Description
HP:0004993 105 Slender long bones with narrow diaphyses
HP:0007041 105 Chronic lymphocytic meningitis
HP:0007333 105 Hypoplasia of the frontal lobes
HP:0410292 105 Abnormal isohemagglutinin level
Cluster Cell function Description Phenotype_coverage Genes
105 GO:0030258 lipid modification 100 FIG4, SLC35C1, MFSD2A
105 R-HSA-446203 Asparagine N-linked glycosylation 75 DPM1, TRAPPC10, SLC35C1, COPB2
105 GO:0006493 protein O-linked glycosylation 75 B3GALT6, SLC35C1

Cluster #126

HPO Cluster Description
HP:0000501 126 Glaucoma
HP:0000541 126 Retinal detachment
HP:0000648 126 Optic atrophy
HP:0001644 126 Dilated cardiomyopathy
HP:0003560 126 Muscular dystrophy
HP:0007260 126 Type II lissencephaly
HP:0007973 126 Retinal dysplasia
Cluster Cell function Description Phenotype_coverage Genes
126 GO:0035269 protein O-linked mannosylation 100.00000 LARGE1, CRPPA, POMT1, DPM3, DPM1, POMGNT2, POMT2, FKTN, B4GAT1, RXYLT1, FKRP
126 hsa00515 Mannose type O-glycan biosynthesis 85.71429 POMGNT2, POMT2, POMGNT1, POMK, FKRP, LARGE1, CRPPA, RXYLT1, POMT1, B4GAT1, B3GALNT2, FKTN
126 R-HSA-5173105 O-linked glycosylation 85.71429 POMT2, POMGNT2, POMGNT1, DAG1, B3GALNT2, LARGE1, B4GAT1, POMK, POMT1
126 R-HSA-5668914 Diseases of metabolism 85.71429 IDUA, DPM3, DHDDS, DPM1, POMGNT1, DAG1, LARGE1, AHCY, MMUT, B4GAT1, IDS, POMT2, POMT1
126 R-HSA-3906995 Diseases associated with O-glycosylation of proteins 85.71429 POMGNT1, DAG1, LARGE1, B4GAT1, POMT2, POMT1
126 GO:0071711 basement membrane organization 85.71429 LARGE1, LAMA2, DAG1, POMGNT1, POMT2, LAMB1, COL4A1
126 GO:0021542 dentate gyrus development 85.71429 POMT2, LARGE1, POMGNT1
126 R-HSA-3781865 Diseases of glycosylation 71.42857 DPM3, DHDDS, POMGNT1, DAG1, LARGE1, DPM1, B4GAT1, POMT2, POMT1
126 GO:0060049 regulation of protein glycosylation 71.42857 POMT2, FKTN, POMT1
126 GO:0150076 neuroinflammatory response 71.42857 POMT2, LARGE1, POMGNT1
126 GO:0008375 acetylglucosaminyltransferase activity 71.42857 POMGNT1, POMGNT2, B4GAT1, LARGE1

Cluster #33

HPO Cluster Description
HP:0000759 33 Abnormal peripheral nervous system morphology
HP:0001929 33 Reduced factor XI activity
HP:0003073 33 Hypoalbuminemia
HP:0003256 33 Abnormality of the coagulation cascade
HP:0003563 33 Decreased LDL cholesterol concentration
HP:0003645 33 Prolonged partial thromboplastin time
HP:0005543 33 Reduced protein C activity
HP:0008151 33 Prolonged prothrombin time
HP:0011327 33 Posterior plagiocephaly
HP:0012340 33 Decreased resting energy expenditure
HP:0012447 33 Abnormal myelination
HP:0020037 33 Astasia
HP:0025457 33 Decreased CSF protein concentration
HP:0025458 33 Decreased CSF albumin concentration
HP:0030194 33 Fatigable weakness of speech muscles
HP:0030906 33 Suck reflex
HP:0031146 33 Impaired oral bolus formation
HP:0040209 33 Decreased CSF biopterin level
HP:0100899 33 Sclerosis of finger phalanx
HP:0410240 33 Abnormal circulating IgA level
HP:0410242 33 Abnormal circulating IgG level
HP:0410243 33 Abnormal circulating IgM level
HP:0410295 33 Complete or near-complete absence of specific antibody response to tetanus vaccine
HP:0410305 33 Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
Cluster Cell function Description Phenotype_coverage Genes
33 R-HSA-446203 Asparagine N-linked glycosylation 91.66667 COG8, MCFD2, NGLY1, COG2, GNE, B4GALT1, MPI, LMAN1, ALG8, ALG6, DDOST, PMM2, DPM1, MGAT2, F8, ALG12
33 GO:0009100 glycoprotein metabolic process 83.33333 B4GALT1, ALG8, DPM1, DDOST, NGLY1, ALG6, MGAT2, PMM2, ALG12
33 GO:0006457 protein folding 79.16667 LMAN1, ALG12, NGLY1

Cluster #125

HPO Cluster Description
HP:0001234 125 Hitchhiker thumb
HP:0001407 125 Hepatic cysts
HP:0002265 125 Large fleshy ears
HP:0003186 125 Inverted nipples
HP:0008724 125 Hypoplasia of the ovary
HP:0008776 125 Abnormal renal artery morphology
HP:0009487 125 Ulnar deviation of the hand
HP:0010763 125 Low insertion of columella
HP:0012704 125 Widened subarachnoid space
HP:0032464 125 Ureteral hypoplasia
HP:0100865 125 Broad ischia
Cluster Cell function Description Phenotype_coverage Genes
125 GO:0000030 mannosyltransferase activity 90.90909 ALG11, ALG2, DPM1, ALG8, ALG9, ALG12, ALG3
125 GO:0006488 dolichol-linked oligosaccharide biosynthetic process 81.81818 MPDU1, ALG9, ALG8, DPM1, ALG2, RFT1, ALG12, ALG3
125 GO:0019348 dolichol metabolic process 81.81818 MPDU1, ALG9, ALG8, DPM1, ALG2, RFT1, ALG12, ALG3
125 hsa00510 N-Glycan biosynthesis 72.72727 ALG8, GANAB, ALG12, ALG11, ALG3, ALG5, ALG9, DPM1, ALG2, B4GALT1, MAN1B1, MGAT2
125 R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 72.72727 RFT1, ALG5, ALG2, ALG8, ALG9, ALG11, PMM2, DPM1, ALG3, MPDU1, ALG12

Cluster #77

HPO Cluster Description
HP:0000759 77 Abnormal peripheral nervous system morphology
HP:0000969 77 Edema
HP:0001929 77 Reduced factor XI activity
HP:0001976 77 Reduced antithrombin III activity
HP:0002401 77 Stroke-like episode
HP:0003186 77 Inverted nipples
HP:0003540 77 Impaired platelet aggregation
HP:0003655 77 Reduced level of N-acetylglucosaminyltransferase II
HP:0500173 77 Reflex asystolic syncope
HP:0003256 77 Abnormality of the coagulation cascade
HP:0003282 77 Low alkaline phosphatase
HP:0003645 77 Prolonged partial thromboplastin time
HP:0004523 77 Long eyebrows
HP:0004855 77 Reduced protein S activity
HP:0005543 77 Reduced protein C activity
HP:0009124 77 Abnormal adipose tissue morphology
HP:0010814 77 Abnormal position of hair whorl
HP:0011327 77 Posterior plagiocephaly
HP:0011858 77 Reduced factor IX activity
HP:0012050 77 Anasarca
HP:0012509 77 Reduced thyroxin-binding globulin
HP:0012512 77 Diffuse optic disc pallor
HP:0012882 77 Hyperplastic labia majora
HP:0025330 77 Downgaze palsy
HP:0025534 77 Ocular melanocytosis
HP:0031404 77 Impaired antigen-specific response
HP:0410240 77 Abnormal circulating IgA level
HP:0410242 77 Abnormal circulating IgG level
HP:0410243 77 Abnormal circulating IgM level
HP:0410295 77 Complete or near-complete absence of specific antibody response to tetanus vaccine
HP:0410305 77 Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
Cluster Cell function Description Phenotype_coverage Genes
77 R-HSA-5668914 Diseases of metabolism 90.32258 DPAGT1, ALG6, SRD5A3, ALG11, B4GALT1, DPM1, ALDOB, MGAT2, AHCY, RFT1, GNE, MPI, ALG3, MAN1B1, DPM3, DPM2, ALG8, PMM2, ALG12
77 R-HSA-446203 Asparagine N-linked glycosylation 90.32258 DPAGT1, ALG6, SRD5A3, ALG11, B4GALT1, DPM1, F8, MGAT2, RFT1, NGLY1, MCFD2, GNE, MPI, ALG3, DDOST, MAN1B1, COG2, DPM3, DPM2, LMAN1, ALG8, PMM2, ALG12
77 R-HSA-3781865 Diseases of glycosylation 90.32258 DPAGT1, SRD5A3, RFT1, DPM3, DPM2, GNE, B4GALT1, MPI, ALG8, ALG6, ALG11, PMM2, DPM1, ALG3, MGAT2, MAN1B1, ALG12
77 GO:0006487 protein N-linked glycosylation 83.87097 B4GALT1, SRD5A3, ALG8, DPM1, DDOST, ALG11, ALG6, MGAT2, DPAGT1, RFT1, PMM2, ALG12, ALG3
77 hsa00510 N-Glycan biosynthesis 77.41935 ALG6, ALG8, ALG12, ALG11, ALG3, DPM2, DDOST, DPM3, SRD5A3, DPM1, MAN1B1, DPAGT1, B4GALT1, MGAT2
77 R-HSA-3781860 Diseases associated with N-glycosylation of proteins 77.41935 DPAGT1, RFT1, ALG8, ALG6, ALG11, B4GALT1, ALG3, MGAT2, MAN1B1, ALG12
77 R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 74.19355 DPAGT1, SRD5A3, RFT1, DPM3, DPM2, GNE, MPI, ALG8, ALG6, ALG11, PMM2, DPM1, ALG3, ALG12

Cluster #75

HPO Cluster Description
HP:0001027 75 Soft, doughy skin
HP:0002616 75 Aortic root aneurysm
HP:0003016 75 Metaphyseal widening
HP:0003414 75 Atlantoaxial dislocation
HP:0004993 75 Slender long bones with narrow diaphyses
HP:0005678 75 Anterior atlanto-occipital dislocation
HP:0006522 75 Repeated pneumothoraces
HP:0008807 75 Acetabular dysplasia
HP:0012727 75 Thoracic aortic aneurysm
Cluster Cell function Description Phenotype_coverage Genes
75 R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism 88.88889 B3GALT6, GLB1, XYLT1
75 GO:0035250 UDP-galactosyltransferase activity 88.88889 B3GALT6
75 GO:0140103 catalytic activity, acting on a glycoprotein 88.88889 B3GALT6
75 GO:0005797 Golgi medial cisterna 88.88889 B3GALT6
75 hsa00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin 77.77778 EXTL3, B3GALT6, XYLT1
75 R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism 77.77778 B3GALT6, DSE, CHST14, XYLT1
75 R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis 77.77778 B3GALT6, XYLT1
75 R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism 77.77778 B3GALT6, CHST14
75 R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1 77.77778 B3GALT6
75 GO:1903510 mucopolysaccharide metabolic process 77.77778 CHST14, DSE, GLB1, XYLT1, B3GALT6
75 GO:0015012 heparan sulfate proteoglycan biosynthetic process 77.77778 EXTL3, B3GALT6, XYLT1, DSE

Cluster #100

HPO Cluster Description
HP:0003121 100 Limb joint contracture
HP:0003186 100 Inverted nipples
HP:0007366 100 Atrophy/Degeneration affecting the brainstem
HP:0008695 100 Transient nephrotic syndrome
HP:0012345 100 Abnormal glycosylation
HP:0012348 100 Decreased galactosylation of N-linked protein glycosylation
HP:0012363 100 Decreased sialylation of O-linked protein glycosylation
HP:0012762 100 Cerebral white matter atrophy
HP:0045060 100 Aplasia/hypoplasia involving bones of the extremities
Cluster Cell function Description Phenotype_coverage Genes
100 GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity 88.88889 SLC35A2
100 GO:0090481 pyrimidine nucleotide-sugar transmembrane transport 77.77778 SLC35A2

Cluster #124

HPO Cluster Description
HP:0001374 124 Congenital hip dislocation
HP:0001929 124 Reduced factor XI activity
HP:0003121 124 Limb joint contracture
HP:0003563 124 Decreased LDL cholesterol concentration
HP:0005543 124 Reduced protein C activity
HP:0012340 124 Decreased resting energy expenditure
HP:0012447 124 Abnormal myelination
HP:0020037 124 Astasia
HP:0025457 124 Decreased CSF protein concentration
HP:0025458 124 Decreased CSF albumin concentration
HP:0030194 124 Fatigable weakness of speech muscles
HP:0030906 124 Suck reflex
HP:0031146 124 Impaired oral bolus formation
HP:0040209 124 Decreased CSF biopterin level
HP:0100899 124 Sclerosis of finger phalanx
Cluster Cell function Description Phenotype_coverage Genes
124 R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle 86.66667 NGLY1
124 GO:0071712 ER-associated misfolded protein catabolic process 86.66667 NGLY1
124 GO:0006517 protein deglycosylation 86.66667 NGLY1
124 GO:0006516 glycoprotein catabolic process 86.66667 NGLY1
124 R-HSA-446203 Asparagine N-linked glycosylation 80.00000 NGLY1, B4GALT1, MPI, ALG8, ALG6, PMM2, DPM1, MGAT2, ALG12
124 GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides 80.00000 NGLY1
124 GO:0006457 protein folding 73.33333 ALG12, NGLY1

Cluster #80

HPO Cluster Description
HP:0001929 80 Reduced factor XI activity
HP:0002243 80 Protein-losing enteropathy
HP:0002625 80 Deep venous thrombosis
HP:0003563 80 Decreased LDL cholesterol concentration
HP:0004855 80 Reduced protein S activity
HP:0005543 80 Reduced protein C activity
HP:0006118 80 Shortening of all distal phalanges of the fingers
HP:0011443 80 Abnormality of coordination
HP:0011858 80 Reduced factor IX activity
HP:0012509 80 Reduced thyroxin-binding globulin
HP:0012882 80 Hyperplastic labia majora
HP:0031404 80 Impaired antigen-specific response
HP:0003073 80 Hypoalbuminemia
HP:0040246 80 Reduced antithrombin antigen
Cluster Cell function Description Phenotype_coverage Genes
80 GO:0006487 protein N-linked glycosylation 85.71429 NUS1, B4GALT1, DHDDS, ALG8, DPM1, ALG1, ALG6, MGAT2, DPAGT1, PMM2, ALG12
80 R-HSA-3781865 Diseases of glycosylation 78.57143 DPAGT1, ALG1, B4GALT1, MPI, ALG8, ALG6, PMM2, DPM1, MGAT2, ALG12
80 R-HSA-5668914 Diseases of metabolism 78.57143 DPAGT1, ALG1, B4GALT1, MPI, ALG8, ALG6, MMACHC, MTRR, PMM2, DPM1, MGAT2, ALG12
80 R-HSA-446203 Asparagine N-linked glycosylation 78.57143 DPAGT1, COG8, NGLY1, ALG1, B4GALT1, MPI, ALG8, ALG6, PMM2, DPM1, MGAT2, ALG12
80 R-HSA-5609975 Diseases associated with glycosylation precursor biosynthesis 78.57143 DHDDS, NUS1, MPI, PMM2, DPM1
80 R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 78.57143 DPAGT1, ALG1, MPI, ALG8, ALG6, PMM2, DPM1, ALG12
80 hsa00051 Fructose and mannose metabolism 71.42857 PMM2, MPI
80 hsa01250 Biosynthesis of nucleotide sugars 71.42857 PMM2, MPI
80 hsa00520 Amino sugar and nucleotide sugar metabolism 71.42857 PMM2, MPI
80 R-HSA-446219 Synthesis of substrates in N-glycan biosythesis 71.42857 DHDDS, NUS1, MPI, PMM2, DPM1

Cluster #99

HPO Cluster Description
HP:0000895 99 Lateral clavicle hook
HP:0005182 99 Bicuspid pulmonary valve
HP:0008108 99 Advanced tarsal ossification
HP:0008569 99 Microtia, second degree
HP:0008873 99 Disproportionate short-limb short stature
HP:0012107 99 Increased fibular diameter
HP:0100819 99 Intestinal fistula
Cluster Cell function Description Phenotype_coverage Genes
99 R-HSA-5668914 Diseases of metabolism 85.71429 B3GLCT, SLC35D1
99 GO:0019318 hexose metabolic process 85.71429 INPPL1, B3GLCT

Cluster #115

HPO Cluster Description
HP:0000013 115 Hypoplasia of the uterus
HP:0002761 115 Generalized joint hypermobility
HP:0003164 115 Hypothalamic gonadotropin-releasing hormone deficiency
HP:0003187 115 Breast hypoplasia
HP:0005616 115 Accelerated skeletal maturation
HP:0008724 115 Hypoplasia of the ovary
HP:0030019 115 Increased female libido
Cluster Cell function Description Phenotype_coverage Genes
115 R-HSA-373076 Class A/1 (Rhodopsin-like receptors) 85.71429 GNRHR, PROK2, KISS1, TAC3, KISS1R, GNRH1, TACR3, PROKR2
115 R-HSA-375276 Peptide ligand-binding receptors 85.71429 PROK2, KISS1, TAC3, KISS1R, TACR3, PROKR2
115 R-HSA-500792 GPCR ligand binding 85.71429 GNRHR, WNT4, KISS1, PROK2, TAC3, DHH, KISS1R, GNRH1, TACR3, PROKR2
115 R-HSA-416476 G alpha (q) signalling events 85.71429 GNRHR, PROK2, KISS1, TAC3, KISS1R, GNRH1, TACR3, PROKR2
115 hsa04929 GnRH secretion 71.42857 KISS1, KISS1R, GNRH1
115 hsa04080 Neuroactive ligand-receptor interaction 71.42857 GNRHR, GNRH1, KISS1R, TAC3, TACR3, LEP, LEPR, KISS1
115 R-HSA-375281 Hormone ligand-binding receptors 71.42857 GNRHR, GNRH1
115 GO:0045987 positive regulation of smooth muscle contraction 71.42857 TACR3, PROK2
115 GO:0048608 reproductive structure development 71.42857 CHD7, WNT4, LEP, HESX1, NHLH2, FGF8, DHH, FOXL2, GNRH1, MKKS, ESR1, SCAPER
115 GO:0032274 gonadotropin secretion 71.42857 GNRHR, KISS1, LEP, FOXL2
115 GO:0007548 sex differentiation 71.42857 CHD7, WNT4, CYP17A1, LEP, HESX1, NHLH2, FGF8, DHH, FOXL2, GNRH1, MKKS, ESR1, SCAPER
115 GO:0045777 positive regulation of blood pressure 71.42857 TAC3, TACR3, PDE4D

Cluster #60

HPO Cluster Description
HP:0001302 60 Pachygyria
HP:0002282 60 Gray matter heterotopia
HP:0002350 60 Cerebellar cyst
HP:0003325 60 Limb-girdle muscle weakness
HP:0003560 60 Muscular dystrophy
HP:0003707 60 Calf muscle pseudohypertrophy
HP:0006899 60 Fusion of the cerebellar hemispheres
HP:0007260 60 Type II lissencephaly
HP:0030046 60 Hypoglycosylation of alpha-dystroglycan
HP:0030099 60 Reduced muscle fiber alpha dystroglycan
HP:0030197 60 Fatigable weakness of skeletal muscles
HP:0040173 60 Abnormality of the tongue muscle
Cluster Cell function Description Phenotype_coverage Genes
60 hsa00515 Mannose type O-glycan biosynthesis 83.33333 FKTN, POMGNT2, POMGNT1, FKRP, LARGE1, CRPPA, RXYLT1, POMT1, B4GAT1, POMT2, POMK
60 R-HSA-5173105 O-linked glycosylation 83.33333 POMK, POMGNT2, DAG1, POMGNT1, LARGE1, B4GAT1, POMT2, POMT1
60 R-HSA-3781865 Diseases of glycosylation 83.33333 GFPT1, DPM3, DPM1, DAG1, POMGNT1, LARGE1, ALG14, B4GAT1, POMT2, POMT1
60 GO:0035269 protein O-linked mannosylation 83.33333 LARGE1, POMT1, DPM3, DPM1, POMGNT2, POMT2, FKRP, FKTN, B4GAT1, RXYLT1, CRPPA
60 GO:0043403 skeletal muscle tissue regeneration 83.33333 LARGE1, DAG1, CAPN3, SGCA, FKRP
60 R-HSA-3906995 Diseases associated with O-glycosylation of proteins 75.00000 POMGNT1, DAG1, LARGE1, B4GAT1, POMT2, POMT1
60 GO:0071711 basement membrane organization 75.00000 LARGE1, LAMA2, DAG1, LAMA1, POMGNT1, POMT2, LAMB1
60 GO:0060049 regulation of protein glycosylation 75.00000 POMT2, FKTN, POMT1
60 GO:0002162 dystroglycan binding 75.00000 DAG1, FKRP

Cluster #68

HPO Cluster Description
HP:0002947 68 Cervical kyphosis
HP:0003498 68 Disproportionate short stature
HP:0004002 68 Flattened radial epiphyses
HP:0004037 68 Abnormal ulnar epiphysis morphology
HP:0005922 68 Abnormal hand morphology
HP:0008434 68 Hypoplastic cervical vertebrae
HP:0008807 68 Acetabular dysplasia
HP:0008829 68 Delayed femoral head ossification
HP:0009381 68 Short finger
HP:0009487 68 Ulnar deviation of the hand
HP:0025264 68 Stiff ankle
HP:0040072 68 Abnormal forearm bone morphology
Cluster Cell function Description Phenotype_coverage Genes
68 GO:0035988 chondrocyte proliferation 83.33333 MMP14, SLC26A2, EXT1, NPR2
68 GO:0019532 oxalate transport 75.00000 SLC26A2
68 GO:0015701 bicarbonate transport 75.00000 SLC26A2
68 GO:1902358 sulfate transmembrane transport 75.00000 SLC26A2
68 GO:0002062 chondrocyte differentiation 75.00000 EXT1, NPR2, SLC26A2, EXT2, COL2A1, WNT7A
68 GO:0019531 oxalate transmembrane transporter activity 75.00000 SLC26A2
68 GO:0008271 secondary active sulfate transmembrane transporter activity 75.00000 SLC26A2
68 GO:0015106 bicarbonate transmembrane transporter activity 75.00000 SLC26A2
68 GO:0005452 solute:inorganic anion antiporter activity 75.00000 SLC26A2

Cluster #87

HPO Cluster Description
HP:0005543 87 Reduced protein C activity
HP:0010819 87 Atonic seizure
HP:0011812 87 Agraphesthesia
HP:0012340 87 Decreased resting energy expenditure
HP:0020037 87 Astasia
HP:0025457 87 Decreased CSF protein concentration
HP:0025458 87 Decreased CSF albumin concentration
HP:0030194 87 Fatigable weakness of speech muscles
HP:0030906 87 Suck reflex
HP:0031146 87 Impaired oral bolus formation
HP:0040209 87 Decreased CSF biopterin level
HP:0100899 87 Sclerosis of finger phalanx
Cluster Cell function Description Phenotype_coverage Genes
87 R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle 83.33333 NGLY1
87 R-HSA-446203 Asparagine N-linked glycosylation 83.33333 NGLY1, MPI, ALG8, ALG6, B4GALT1, DPM1, ALG12
87 GO:0071712 ER-associated misfolded protein catabolic process 83.33333 NGLY1
87 GO:0006457 protein folding 83.33333 ALG12, NGLY1
87 GO:0006517 protein deglycosylation 83.33333 NGLY1
87 GO:0006516 glycoprotein catabolic process 83.33333 NGLY1
87 GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides 83.33333 NGLY1
87 hsa04141 Protein processing in endoplasmic reticulum 75.00000 NGLY1

Cluster #79

HPO Cluster Description
HP:0001234 79 Hitchhiker thumb
HP:0001591 79 Bell-shaped thorax
HP:0002947 79 Cervical kyphosis
HP:0003026 79 Short long bone
HP:0003498 79 Disproportionate short stature
HP:0004002 79 Flattened radial epiphyses
HP:0004037 79 Abnormal ulnar epiphysis morphology
HP:0004664 79 Facial midline hemangioma
HP:0006385 79 Short lower limbs
HP:0008434 79 Hypoplastic cervical vertebrae
HP:0008829 79 Delayed femoral head ossification
HP:0009824 79 Upper limb undergrowth
HP:0012427 79 Increased femoral anteversion
HP:0009826 79 Limb undergrowth
HP:0025264 79 Stiff ankle
HP:0040072 79 Abnormal forearm bone morphology
Cluster Cell function Description Phenotype_coverage Genes
79 GO:0001503 ossification 81.25 EXT1, NPR2, SLC26A2, EXT2, XYLT1, COL2A1, MMP13, CSGALNACT1, COMP, EBP, PHEX
79 GO:0002062 chondrocyte differentiation 81.25 EXT1, NPR2, SLC26A2, EXT2, COL2A1, WNT7A, COMP
79 GO:0035988 chondrocyte proliferation 81.25 SLC26A2, NPR2, EXT1, COMP
79 GO:0019531 oxalate transmembrane transporter activity 75.00 SLC26A2
79 GO:0008271 secondary active sulfate transmembrane transporter activity 75.00 SLC26A2
79 GO:0015106 bicarbonate transmembrane transporter activity 75.00 SLC26A2
79 GO:0005452 solute:inorganic anion antiporter activity 75.00 SLC26A2

Cluster #84

HPO Cluster Description
HP:0003256 84 Abnormality of the coagulation cascade
HP:0012301 84 Type II transferrin isoform profile
HP:0012347 84 Abnormal protein N-linked glycosylation
HP:0012358 84 Abnormal protein O-linked glycosylation
HP:0100874 84 Thick hair
Cluster Cell function Description Phenotype_coverage Genes
84 R-HSA-446203 Asparagine N-linked glycosylation 80 COG2, MPI, COG1, COG4, ALG8, ALG6, B4GALT1, DDOST, MAN1B1, COG7, ALG12
84 GO:0007030 Golgi organization 80 COG7, COG4, VPS13B, COG1
84 GO:0070085 glycosylation 80 COG7, B4GALT1, ALG8, COG1, COG4, ALG6, DDOST, ALG12, SLC39A8, COG2
84 GO:0006891 intra-Golgi vesicle-mediated transport 80 COG7, COG4, COG1
84 GO:0099023 vesicle tethering complex 80 COG4, VPS33A, COG1, COG7

Cluster #103

HPO Cluster Description
HP:0001762 103 Talipes equinovarus
HP:0003311 103 Hypoplasia of the odontoid process
HP:0004582 103 Irregularity of vertebral bodies
HP:0011995 103 Atrial septal dilatation
HP:0012301 103 Type II transferrin isoform profile
Cluster Cell function Description Phenotype_coverage Genes
103 R-HSA-6807878 COPI-mediated anterograde transport 80 COG7, COG4, COG1
103 R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network 80 COG7, COG4, COG1
103 R-HSA-199977 ER to Golgi Anterograde Transport 80 COG7, COG4, COG1, TRAPPC2
103 R-HSA-6811438 Intra-Golgi traffic 80 COG7, COG4, COG1
103 R-HSA-948021 Transport to the Golgi and subsequent modification 80 TRAPPC2, COG1, COG4, B4GALT1, COG7
103 GO:0099023 vesicle tethering complex 80 TRAPPC2, COG4, COG1, COG7
103 GO:0032588 trans-Golgi network membrane 80 COG4, COG1, COG7

Cluster #106

HPO Cluster Description
HP:0000565 106 Esotropia
HP:0000973 106 Cutis laxa
HP:0001374 106 Congenital hip dislocation
HP:0001476 106 Delayed closure of the anterior fontanelle
HP:0001976 106 Reduced antithrombin III activity
HP:0002240 106 Hepatomegaly
HP:0002761 106 Generalized joint hypermobility
HP:0003160 106 Abnormal isoelectric focusing of serum transferrin
HP:0003186 106 Inverted nipples
HP:0003199 106 Decreased muscle mass
HP:0004993 106 Slender long bones with narrow diaphyses
HP:0005272 106 Prominent nasolabial fold
HP:0006114 106 Multiple palmar creases
HP:0006891 106 Thick cerebral cortex
HP:0007392 106 Excessive wrinkled skin
HP:0007457 106 Prominent veins on trunk
HP:0007552 106 Abnormal subcutaneous fat tissue distribution
HP:0008113 106 Multiple plantar creases
HP:0009125 106 Lipodystrophy
HP:0010989 106 Abnormality of the intrinsic pathway
HP:0011003 106 High myopia
HP:0011995 106 Atrial septal dilatation
HP:0025167 106 Fragmented elastic fibers in the dermis
HP:0025244 106 Subretinal pigment epithelium hemorrhage
HP:0012050 106 Anasarca
Cluster Cell function Description Phenotype_coverage Genes
106 R-HSA-917977 Transferrin endocytosis and recycling 80 ATP6V0A2, ATP6V1A, ATP6V1E1
106 R-HSA-77387 Insulin receptor recycling 80 ATP6V0A2, ATP6V1A, ATP6V1E1
106 R-HSA-1222556 ROS and RNS production in phagocytes 80 ATP6V0A2, ATP6V1A, ATP6V1E1
106 GO:0046961 proton-transporting ATPase activity, rotational mechanism 80 ATP6V1A, ATP6V1E1, ATP6V0A2
106 hsa04966 Collecting duct acid secretion 76 ATP6V1E1, ATP6V1A, ATP6V0A2
106 hsa05110 Vibrio cholerae infection 76 ATP6V1E1, ATP6V1A, ATP6V0A2
106 R-HSA-917937 Iron uptake and transport 76 ATP6V0A2, ATP6V1A, ATP6V1E1
106 R-HSA-74752 Signaling by Insulin receptor 76 GRB10, ATP6V0A2, ATP6V1A, ATP6V1E1
106 GO:0051117 ATPase binding 76 ATP6V1E1, ATP6V0A2
106 GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain 76 ATP6V0A2
106 GO:1904949 ATPase complex 76 ATP6V1A, ATP6V0A2, ATP6V1E1, SMARCA2
106 hsa05323 Rheumatoid arthritis 72 ATP6V1E1, ATP6V1A, TGFB1, ATP6V0A2
106 hsa04721 Synaptic vesicle cycle 72 SNAP25, CPLX1, ATP6V1E1, ATP6V0A2, ATP6V1A
106 hsa05120 Epithelial cell signaling in Helicobacter pylori infection 72 ATP6V1E1, ATP6V1A, ATP6V0A2
106 GO:0015078 proton transmembrane transporter activity 72 ATP6V1A, ATP6V1E1, ATP6V0A2, SLC9A6

Cluster #107

HPO Cluster Description
HP:0000707 107 Abnormality of the nervous system
HP:0000759 107 Abnormal peripheral nervous system morphology
HP:0000969 107 Edema
HP:0001410 107 Decreased liver function
HP:0001929 107 Reduced factor XI activity
HP:0002243 107 Protein-losing enteropathy
HP:0002910 107 Elevated circulating hepatic transaminase concentration
HP:0003073 107 Hypoalbuminemia
HP:0003256 107 Abnormality of the coagulation cascade
HP:0003563 107 Decreased LDL cholesterol concentration
HP:0003645 107 Prolonged partial thromboplastin time
HP:0004855 107 Reduced protein S activity
HP:0005543 107 Reduced protein C activity
HP:0009124 107 Abnormal adipose tissue morphology
HP:0010557 107 Overlapping fingers
HP:0011327 107 Posterior plagiocephaly
HP:0012379 107 Abnormal circulating enzyme concentration or activity
HP:0040246 107 Reduced antithrombin antigen
HP:0410240 107 Abnormal circulating IgA level
HP:0410242 107 Abnormal circulating IgG level
HP:0410243 107 Abnormal circulating IgM level
HP:0410295 107 Complete or near-complete absence of specific antibody response to tetanus vaccine
HP:0410305 107 Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
Cluster Cell function Description Phenotype_coverage Genes
107 hsa00510 N-Glycan biosynthesis 78.26087 ALG6, ALG8, ALG12, ALG11, ALG1, ALG3, DDOST, DPM1, MOGS, DPAGT1, B4GALT1, MGAT2
107 R-HSA-3781860 Diseases associated with N-glycosylation of proteins 78.26087 DPAGT1, ALG1, MOGS, ALG11, ALG8, ALG6, ALG3, B4GALT1, MGAT2, ALG12
107 R-HSA-3781865 Diseases of glycosylation 78.26087 DPAGT1, ALG1, GNE, ALG11, B4GALT1, MOGS, MPI, ALG8, ALG6, ALG3, PMM2, DPM1, MGAT2, ALG12
107 GO:0006487 protein N-linked glycosylation 78.26087 B4GALT1, ALG8, DPM1, DDOST, ALG1, ALG11, ALG6, MGAT2, DPAGT1, MOGS, PMM2, ALG12, ALG3
107 hsa00513 Various types of N-glycan biosynthesis 73.91304 ALG12, ALG11, ALG1, ALG3, DDOST, B4GALT1, MGAT2
107 R-HSA-5668914 Diseases of metabolism 73.91304 DPAGT1, ALG1, GNE, ALG11, B4GALT1, MPI, ALG8, ALG6, ALG3, PMM2, DPM1, ALDOB, MGAT2, ALG12
107 R-HSA-446203 Asparagine N-linked glycosylation 73.91304 DPAGT1, ALG6, ALG1, ALG11, B4GALT1, DPM1, F8, COG8, MGAT2, MCFD2, NGLY1, GNE, MPI, ALG3, DDOST, COG2, LMAN1, ALG8, PMM2, ALG12
107 R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 73.91304 DPAGT1, ALG1, GNE, ALG11, MPI, ALG8, ALG6, ALG3, PMM2, DPM1, ALG12
107 GO:0070085 glycosylation 73.91304 COG8, B4GALT1, ALG8, DPM1, DDOST, ALG1, ALG11, ALG6, MGAT2, DPAGT1, PMM2, ALG12, ALG3, COG2

Cluster #66

HPO Cluster Description
HP:0002350 66 Cerebellar cyst
HP:0002515 66 Waddling gait
HP:0002938 66 Lumbar hyperlordosis
HP:0003236 66 Elevated circulating creatine kinase concentration
HP:0003325 66 Limb-girdle muscle weakness
HP:0003403 66 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003551 66 Difficulty climbing stairs
HP:0003560 66 Muscular dystrophy
HP:0003691 66 Scapular winging
HP:0003707 66 Calf muscle pseudohypertrophy
HP:0008981 66 Calf muscle hypertrophy
HP:0030099 66 Reduced muscle fiber alpha dystroglycan
HP:0030046 66 Hypoglycosylation of alpha-dystroglycan
Cluster Cell function Description Phenotype_coverage Genes
66 GO:0006486 protein glycosylation 76.92308 LARGE1, CRPPA, POMT1, DPM3, GFPT1, ALG2, POMGNT1, DPM1, POMGNT2, POMT2, POMK, DPAGT1, FKTN, GMPPB, RXYLT1, B4GAT1, FKRP, ALG14

Cluster #8

HPO Cluster Description
HP:0001250 8 Seizure
HP:0001508 8 Failure to thrive
HP:0002120 8 Cerebral cortical atrophy
HP:0002401 8 Stroke-like episode
Cluster Cell function Description Phenotype_coverage Genes
8 GO:0048568 embryonic organ development 75 MYO7A, PTCH1, GLI2, SIX3, NODAL, ERCC2, FGF8, DLL1, ERCC3, FOXH1, STIL

Cluster #39

HPO Cluster Description
HP:0001272 39 Cerebellar atrophy
HP:0002020 39 Gastroesophageal reflux
HP:0008676 39 Congenital megaureter
HP:0010804 39 Tented upper lip vermilion
Cluster Cell function Description Phenotype_coverage Genes
39 GO:0006664 glycolipid metabolic process 75 PIGT, CLN6, FA2H, PIGN

Cluster #71

HPO Cluster Description
HP:0001928 71 Abnormality of coagulation
HP:0003642 71 Type I transferrin isoform profile
HP:0005478 71 Prominent frontal sinuses
HP:0008529 71 Absence of acoustic reflex
HP:0001976 71 Reduced antithrombin III activity
HP:0002240 71 Hepatomegaly
HP:0002910 71 Elevated circulating hepatic transaminase concentration
HP:0012704 71 Widened subarachnoid space
Cluster Cell function Description Phenotype_coverage Genes
71 GO:0006488 dolichol-linked oligosaccharide biosynthetic process 75 SRD5A3, MPDU1, ALG8, ALG2, DPM1, ALG9, ALG6, DPAGT1, RFT1, DOLK
71 GO:0019348 dolichol metabolic process 75 SRD5A3, MPDU1, ALG8, ALG2, DPM2, DPM1, ALG9, ALG6, DPAGT1, RFT1, DOLK

Cluster #122

HPO Cluster Description
HP:0001929 122 Reduced factor XI activity
HP:0002361 122 Psychomotor deterioration
HP:0010989 122 Abnormality of the intrinsic pathway
HP:0025244 122 Subretinal pigment epithelium hemorrhage
Cluster Cell function Description Phenotype_coverage Genes
122 hsa04966 Collecting duct acid secretion 75 ATP6V1E1, ATP6V1A, ATP6V0A2
122 hsa04145 Phagosome 75 ATP6V1E1, ATP6V1A, ATP6V0A2
122 hsa05165 Human papillomavirus infection 75 ATP6V1E1, ATP6V1A, ATP6V0A2
122 hsa04150 mTOR signaling pathway 75 ATP6V1A, ATP6V1E1
122 hsa05323 Rheumatoid arthritis 75 ATP6V1E1, ATP6V1A, ATP6V0A2
122 hsa00190 Oxidative phosphorylation 75 ATP6V1E1, ATP6V1A, ATP6V0A2
122 hsa05110 Vibrio cholerae infection 75 ATP6V1E1, ATP6V1A, ATP6V0A2
122 hsa04721 Synaptic vesicle cycle 75 ATP6V1E1, ATP6V1A, ATP6V0A2
122 hsa05120 Epithelial cell signaling in Helicobacter pylori infection 75 ATP6V1E1, ATP6V1A, ATP6V0A2
122 R-HSA-917977 Transferrin endocytosis and recycling 75 ATP6V0A2, ATP6V1A, ATP6V1E1
122 R-HSA-74752 Signaling by Insulin receptor 75 ATP6V0A2, ATP6V1A, ATP6V1E1
122 R-HSA-9711097 Cellular response to starvation 75 ATP6V1A, ATP6V1E1
122 R-HSA-917937 Iron uptake and transport 75 ATP6V0A2, ATP6V1A, ATP6V1E1
122 R-HSA-77387 Insulin receptor recycling 75 ATP6V0A2, ATP6V1A, ATP6V1E1
122 R-HSA-1222556 ROS and RNS production in phagocytes 75 ATP6V0A2, ATP6V1A, ATP6V1E1
122 R-HSA-983712 Ion channel transport 75 ATP6V0A2, ATP6V1A, ATP6V1E1
122 R-HSA-9639288 Amino acids regulate mTORC1 75 ATP6V1A, ATP6V1E1
122 GO:0036295 cellular response to increased oxygen levels 75 ATP6V0A2, ATP6V1A
122 GO:0007035 vacuolar acidification 75 ATP6V0A2, ATP6V1A
122 GO:0061795 Golgi lumen acidification 75 ATP6V0A2, ATP6V1A
122 GO:0097401 synaptic vesicle lumen acidification 75 ATP6V1E1, ATP6V1A
122 GO:0016241 regulation of macroautophagy 75 ATP6V1E1, ATP6V0A2, ATP6V1A
122 GO:0006879 intracellular iron ion homeostasis 75 ATP6V0A2, ATP6V1A
122 GO:0046961 proton-transporting ATPase activity, rotational mechanism 75 ATP6V1A, ATP6V1E1, ATP6V0A2
122 GO:0051117 ATPase binding 75 ATP6V1E1, ATP6V0A2
122 GO:0046933 proton-transporting ATP synthase activity, rotational mechanism 75 ATP6V1A
122 GO:0016324 apical plasma membrane 75 ATP6V1A, ATP6V1E1
122 GO:0098850 extrinsic component of synaptic vesicle membrane 75 ATP6V1A
122 GO:0005902 microvillus 75 ATP6V1A, ATP6V1E1
122 GO:0030665 clathrin-coated vesicle membrane 75 ATP6V1A, ATP6V1E1
122 GO:1904949 ATPase complex 75 ATP6V1A, ATP6V0A2, ATP6V1E1
122 GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain 75 ATP6V0A2
122 GO:0005765 lysosomal membrane 75 ATP6V1A, ATP6V0A2, ATP6V1E1
122 GO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain 75 ATP6V1A, ATP6V1E1
122 GO:1902495 transmembrane transporter complex 75 ATP6V1A, ATP6V0A2, SCN8A, KCNQ3

Cluster #91

HPO Cluster Description
HP:0001644 91 Dilated cardiomyopathy
HP:0003236 91 Elevated circulating creatine kinase concentration
HP:0003325 91 Limb-girdle muscle weakness
HP:0003551 91 Difficulty climbing stairs
HP:0003560 91 Muscular dystrophy
HP:0003691 91 Scapular winging
HP:0003697 91 Scapuloperoneal amyotrophy
HP:0003733 91 Thigh hypertrophy
HP:0008981 91 Calf muscle hypertrophy
HP:0025169 91 Left ventricular systolic dysfunction
HP:0030092 91 Reduced muscle fiber merosin
HP:0030099 91 Reduced muscle fiber alpha dystroglycan
HP:0030197 91 Fatigable weakness of skeletal muscles
HP:0040173 91 Abnormality of the tongue muscle
Cluster Cell function Description Phenotype_coverage Genes
91 GO:0035269 protein O-linked mannosylation 71.42857 LARGE1, CRPPA, POMT1, DPM3, DPM1, POMGNT2, POMT2, FKTN, B4GAT1, RXYLT1, FKRP

Cluster #94

HPO Cluster Description
HP:0002283 94 Global brain atrophy
HP:0003282 94 Low alkaline phosphatase
HP:0008676 94 Congenital megaureter
HP:0009824 94 Upper limb undergrowth
HP:0010818 94 Generalized tonic seizure
HP:0010850 94 EEG with spike-wave complexes
HP:0025330 94 Downgaze palsy
Cluster Cell function Description Phenotype_coverage Genes
94 hsa00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis 71.42857 PIGO, PIGP, PIGQ, PIGV, PIGW, PIGL, PIGN, PIGY, PIGT
94 R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins 71.42857 PIGO, PIGP, PIGW, PIGT, PIGY, DPM1, PIGV, PIGL, PIGN, PIGQ
94 GO:0006506 GPI anchor biosynthetic process 71.42857 PGAP3, PIGP, PIGT, DPM1, PIGO, PIGL, PIGV, PIGQ, PIGN, PIGW, PGAP2, PIGY
94 GO:0140534 endoplasmic reticulum protein-containing complex 71.42857 PIGQ, PIGP, PIGY, PIGT
94 GO:0008303 caspase complex 71.42857 PIGT

Cluster #116

HPO Cluster Description
HP:0000218 116 High palate
HP:0001265 116 Hyporeflexia
HP:0001385 116 Hip dysplasia
HP:0002421 116 Poor head control
HP:0002515 116 Waddling gait
HP:0002650 116 Scoliosis
HP:0003403 116 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003236 116 Elevated circulating creatine kinase concentration
HP:0012762 116 Cerebral white matter atrophy
HP:0003691 116 Scapular winging
Cluster Cell function Description Phenotype_coverage Genes
116 GO:0042692 muscle cell differentiation 70 ACTA1, LARGE1, NEB, BIN1, SPEG, KLHL41, CDON, SYNE1, DMD, FGFR2, CHRNB1, LAMB2, DLL1, SELENON, COMP, KCNH1, SHH, RYR1
116 GO:0007517 muscle organ development 70 LARGE1, NEB, DAG1, CDON, DISP1, CHRNA1, COL6A3, ACTA1, MTM1, CHRND, SMAD3, DMD, FGF8, DLL1, FOXH1, SHH, SPEG, FGFR2, SELENON, KLHL41, RYR1